Gene Locus : human-ABHD16A
Mode of mutation : Natural mutant
Disease : Hereditary spastic paraplegia (HSP) ABHD16A
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : R114X (p.Arg114Stop) NM_021160:c.340C>T In family F37, the nonsense variant NM_021160:c.340C>T (p.Arg114*) was confirmed as homozygous in patients
| Title : Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia - Yahia_2021_Front.Neurol_12_720201 |
| Author(s) : Yahia A , Elsayed LEO , Valter R , Hamed AAA , Mohammed IN , Elseed MA , Salih MA , Esteves T , Auger N , Abubaker R , Koko M , Abozar F , Malik H , Adil R , Emad S , Musallam MA , Idris R , Eltazi IZM , Babai A , Ahmed EAA , Abd Allah ASI , Mairey M , Ahmed A , Elbashir MI , Brice A , Ibrahim ME , Ahmed AE , Lamari F , Stevanin G |
| Ref : Front Neurol , 12 :720201 , 2021 |
| Abstract : Yahia_2021_Front.Neurol_12_720201 |
| ESTHER : Yahia_2021_Front.Neurol_12_720201 |
| PubMedSearch : Yahia_2021_Front.Neurol_12_720201 |
| PubMedID: 34489854 |
| Gene_locus related to this paper: human-ABHD16A |